Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

C/G/T | Ancestral: C | Ambiguity code: B | MAF: < 0.01 (G)

Chromosome 17:63481705 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NC_000017.9:g.58912798C>T

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 34 transcripts, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays